This blog is dedicated to discussing the ups and downs of a family with a child who has Mitochondrial Disease. A blog seems to be a good way to share our experiences as a family and to hopefully connect to others with similar experiences.

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Sunday, July 27, 2008

This weekend, we planted a tree in the mountains. Roxie rode along to help us pick out the tree (a red maple), and she had fun watching as her sister, mom, and I planted the tree in the front (the "back" if you ask my dad or uncle) of the house late Saturday afternoon. Here's a photo of Kate and Roxie posing with our new tree, the first of many we hope to plant in the years to come.

Wednesday, July 16, 2008

A big weight was lifted off our collective shoulders today. We had our follow up visit with Dr. Shoffner in Atlanta, and it could not have gone better.

The upshot is this: we found out that Roxie almost certainly does NOT have an aggressively degenerative form of Mitochondrial Disease. This means she is unlikely to develop additional problems in other organs (e.g., heart, lungs, G.I. tract) AND that she is likely to have a more traditional life expectancy!

The drive home this afternoon was light-hearted to say the least. We really like Dr. Shoffner, and believe that, along with our neurologist, geneticist, and pediatrician (and various specialists and therapists), we are seeing all the right folks for Roxie's condition. With hard work, the latest treatment options, a hope for future breakthroughs and maybe even a cure, we really feel empowered ... probably for the first time since we started this journey.

Saturday, July 12, 2008

Recently, Kate and I attended the United Mitochondrial Disease Foundation annual conference in Indianapolis, IN. We learned a lot, had a chance to have some one-on-one conversations with mito specialist doctors, and met some neat people who are dealing with many of the same issues as us.

One of the doctors we chatted with was Dr. Sumit Parikh. Originally, we were scheduled to visit with his colleague, Dr. Bruce Cohen, at the Cleveland Clinic, but not until October. Dr. Parikh, who we really liked, had an opening in August, so we are now going to see him instead. Hopefully Roxie will tolerate the plane ride better than our trip to Utah a couple years ago ... Dr. Nelson, her neurologist, gave us a prescription for a sedative which we hope will help her.

Doing some research today, I came across this great user-friendly handbook on mitochondrial disease for patients and their families. It is co-authored by Dr. Parikh and Dr. Cohen. Go to the Mitochondrial Medicine Society website, scroll to the bottom, and click on "Mitoland: A Handbook for Patients and Parents" to download the pdf file.

Meet Roxie

Roxie turns 9 in November of 2011. Although she has had to work hard her entire life to learn basic skills like sitting up or using her hands, she is a happy little girl. Roxie has Mitochondrial Disease which has resulted in profound hypotonia, epilepsy, sensory integration disorder, cortical vision impairment, and fragile health. She loves music, her family, and interacting with other children.